Hoʻopaʻakikī anei ka myotonia i kou kino? E kamaʻilio kākou e pili ana i ia mea!

Ke manaʻo nei ʻoe i kekahi manawa ua ʻoʻoleʻa kou lima, wāwae, a i ʻole kekahi ʻiʻo i loko o kou kino a ʻaʻole hiki ke hoʻomaha koke e like me kou manaʻo? E like me ka wā e lulu lima ai ʻoe me kekahi a paʻakikī ke huki i kou lima, a i ʻole ke hoʻāʻo ʻoe e ala aʻe mai kahi noho, e lōʻihi ka manawa. ʻO kēia kekahi o nā hōʻailona o kahi maʻi i kapa ʻia ʻo myotonia. Mai hopohopo, e kamaʻilio mākou e pili ana i kēia me nā kikoʻī.

He aha ka Myotonia?

I ka ʻōlelo maʻalahi, ʻo ka myotonia ka wā e hoʻomaha koke ʻole ai kou mau ʻiʻo ma hope o ko lākou ʻaelike ʻana. E noʻonoʻo e lulu lima ana ʻoe me kekahi, akā paʻakikī ke huki i kou lima, a i ʻole ke noho ʻoe i lalo a hoʻāʻo e ala i luna, ʻoʻoleʻa kou mau wāwae no kekahi manawa. ʻO ia ke ʻano o ka mea.

Aia nā ʻano like ʻole o ka myotonia. Hoʻokumu ʻia kēlā me kēia ʻano e kahi loli genetic . ʻO ia hoʻi, ua hoʻokumu ʻia e kekahi hopena i nā genes i loko o ko mākou kino. I kēlā me kēia ʻano, hoʻopilikia ʻia kahi gene ʻokoʻa.

Ma muli o kēia mau loli genetic, hiki i ka myotonia ke hoʻopilikia i nā ʻāpana ʻē aʻe o kou kino. Ma muli o ke ʻano o ka myotonia āu, hiki i kēia ke hoʻopilikia i kāu:

• I ka puʻuwai
• I nā māmā
• I ka ʻōnaehana hoʻoheheʻe
• I ka lolo
• No nā maka

Hiki ke hana i nā ʻōpū e like me.

He mea maʻamau ka makaʻu ke loaʻa iā ʻoe kahi hōʻailona i loaʻa ʻole iā ʻoe ma mua, e like me ka ʻoʻoleʻa o nā ʻiʻo. Ke noʻonoʻo nei paha ʻoe, "E ʻoi aku ka ʻino o kēia?" a i ʻole "Pehea e pili ai kēia i koʻu ola?" ʻO ka mea maikaʻi loa hiki iā ʻoe ke hana, ʻo ia ke ʻike i ke kauka . He maʻi kakaikahi ka Myotonia, no laila e lōʻihi paha ka manawa e loaʻa ai kahi hōʻailona pololei. Akā i kēia manawa, hiki i kāu kauka ke kōkua iā ʻoe e hōʻoluʻolu i kou mau makaʻu a pane i kāu mau nīnau.

He aha nā ʻano nui o ka myotonia?

Hoʻokaʻawale nā ​​kauka i ka myotonia i ʻelua ʻano nui: dystrophic a me non-dystrophic . Hoʻopilikia nā ʻano ʻelua i nā hōʻailona uila e kāohi ana i ka ʻūlū ʻana o nā ʻiʻo. Eia nō naʻe, i loko o ka dystrophic myotonia, ua hōʻino ʻia ka ʻiʻo ponoʻī. ʻO ka huaʻōlelo 'dystrophy' ʻo ia hoʻi 'ka nāwaliwali mālie a i ʻole ka hoʻopau ʻana o nā ʻiʻo.'

ʻO ka Dystrophic Myotonia (DM)

ʻO ka Dystrophic Myotonia (DM) kahi kūlana e nāwaliwali ai a emi iho ai nā ʻiʻo (atrophy) i ka hala ʻana o ka manawa, no kahi hui o nā maʻi i kapa ʻia ʻo muscular dystrophy. ʻElua ʻano nui:

• ʻO ka Myotonic Dystrophy ʻano 1 (DM1) - ʻO kēia ke ʻano maʻamau.
• ʻO ka Dystrophy Myotonic ʻano 2 (DM2)

ʻO ka Myotonia ʻaʻole dystrophic

I loko o ka myotonia non-dystrophic, ʻaʻole i hōʻino ʻia ke ʻano o nā ʻiʻo. ʻO kekahi mau ʻano ʻē aʻe e hāʻule ana i loko o kēia māhele:

• ʻO ka maʻi Andersen-Tawil
• ʻO ka maʻi lolo manawa hyperkalemic
• ʻO ka maʻi lolo hypokalemic periodic ʻano 1 a me ke ʻano 2
• ʻO Myotonia congenita - ʻO kēia ke ʻano maʻamau o kēia hui.
• ʻO ka maʻi congenita Paramyotonia
• ʻO ka myotonia o ke kahawai sodium

He aha nā hōʻailona o Myotonia?

ʻO ka hōʻailona nui o ka myotonia ka hiki ʻole ke hoʻomaha i kahi ʻiʻo ke pau ka ʻaelike ʻana. Hiki ke ʻike ʻia kēia mau hōʻailona i ka wā kamaliʻi, ka wā kamaliʻi, a i ʻole ka wā makua, ma muli o ke ʻano o ka myotonia.

ʻO nā hōʻailona maʻamau ʻē aʻe e ʻike ʻia:

• ʻO kahi loli i ke ʻano o kou mau ʻiʻo - no ka laʻana, ka hoʻonui ʻia ʻana o nā ʻiʻo (hypertrophy) a i ʻole ka hoʻopau ʻana/nāwaliwali ʻana o nā ʻiʻo (hypotonia) .
• Luhi .
• ʻEha ʻiʻo .
• Ka nāwaliwali o nā ʻiʻo .
• Ke manaʻo nei i ka ʻūmiʻi o nā ʻiʻo, akā e emi ana ke ʻūmiʻi me ka neʻe iki ʻana a i ʻole ka hoʻoikaika kino (hanana hoʻomehana) .

Nā hōʻailona kikoʻī o ka myotonia dystrophic

Loaʻa i kēlā me kēia ʻano dystrophic myotonia nā hōʻailona kikoʻī. Eia kekahi mau laʻana:

• ʻEha ka ʻōpū, ka paʻa ʻana o ka ʻōpū, ka maʻi kahe, ka reflux waikawa, ka pehu ʻana.
• Nā ʻano ʻē i ke ʻano o ka helehelena (facial dysmorphisms) .
• ʻO ke cataracts (pouli o ka ʻike o ka maka) .
• ʻO ka Hyperglycemia kahi maʻi i hoʻokumu ʻia e ke kūʻē ʻana o ka insulin, ka mea e hoʻoulu ai i ke kiʻekiʻe o ke kō koko.
• Ke kīnā noʻonoʻo .
• Ka puʻuwai kūpono ʻole (arrhythmia) a i ʻole nā ​​​​pilikia me nā hōʻailona uila o ka puʻuwai.
• ʻO ka hāʻule ʻana o ka lauoho mai ke alo o ke poʻo i nā kāne (androgenic alopecia) .
• ʻAʻole hiamoe (ʻaʻole hiamoe) .

He aha nā hōʻailona o ka poʻe me ka Periodic Paralysis?

Loaʻa iā ʻoe ka hyperkalemic periodic paralysis.Inā loaʻa iā ʻoe, hiki iā ʻoe ke ʻike i kahi kūlana e like me ka maʻi lolo kahi e nalowale ai kou mau ʻiʻo i ka ikaika no kahi o hoʻokahi a ʻehā mau hola.

Inā loaʻa iā ʻoe ka hypokalemic periodic paralysis , hiki iā ʻoe ke loaʻa ka nāwaliwali o nā ʻiʻo i ka pō a i ke kakahiaka nui paha. Hiki i kēia ke mau mai kekahi mau hola a i kekahi mau lā.

He aha ke kumu o ka myotonia?

Hoʻokumu ʻia ka myotonia e kahi loli kikoʻī i kekahi o kāu mau genes . I mea e ʻoi aku ka kikoʻī, hoʻopilikia kēia mau loli genetic i nā kahawai ion e kuleana no ka kaohi ʻana i ka hana o kou mau ʻiʻo.

Hoʻokumu ʻia kēlā me kēia ʻano myotonia e kahi mutation i loko o kahi gene ʻokoʻa. No ka laʻana, ʻo ka myotonic dystrophy type 1 i hoʻokumu ʻia e kahi pilikia me ka gene DMPK . Hoʻokumu ʻia ʻo Myotonia congenita e kahi pilikia me ka gene CLCN1 . Hiki iā ʻoe ke hoʻoilina i kēia mutation genetic mai kekahi a i ʻole nā ​​​​mākua ʻelua. A i ʻole, hiki ke ulu maʻamau.

Pehea ʻoe e ʻike ai inā he myotonia kou?

I ka hoʻomaka ʻana o ke kaʻina hana diagnostic, e nīnau kāu kauka iā ʻoe e pili ana i kāu mau hōʻailona a me ka mōʻaukala olakino ʻohana . A laila, ma mua o ka hāʻawi ʻana i nā hoʻokolohua no ka myotonia, e kāpae lākou i nā kūlana maʻamau ʻē aʻe e hiki ke hoʻoulu i kāu mau hōʻailona, ​​​​e like me ka hypothyroidism .

Eia nā hoʻokolohua i hoʻohana ʻia no ka ʻike ʻana i ka myotonia:

• Hoʻāʻo Koko Creatine Kinase (CK): ʻO Creatine kinase kahi enzyme i loaʻa nui i nā ʻiʻo. Hoʻokiʻekiʻe pinepine ʻia nā pae CK i ka myotonia.
• Electromyography (EMG): Loiloi kēia hoʻokolohua i ke olakino a me ka hana o kou mau ʻiʻo iwi a me nā aʻalolo e kaohi ana iā lākou.
• Nā hoʻokolohua genetic: Hiki i kēia mau hoʻokolohua ke ʻike i nā loli genetic e hana ai i nā ʻano like ʻole o ka myotonia.
• Hoʻāʻo koko potassium: Hiki i kāu kauka ke hoʻohana i kēia hoʻāʻo e nānā no ka hyperkalemic periodic paralysis (potassium kiʻekiʻe i loko o ke koko) a i ʻole ka hypokalemic periodic paralysis (potassium haʻahaʻa i loko o ke koko).
• Hoʻāʻo hoʻoikaika kino pōkole: Ma kēia hoʻāʻo, pono ʻoe e hoʻopaʻa i kou mau ʻiʻo i nā manawa i hoʻonohonoho ʻia ʻoiai ke nānā nei ke kauka i ke ʻano o ka pane ʻana o kou mau aʻalolo a me nā ʻiʻo.

He maʻi laha ʻole ka Myotonia,Malia paha e lōʻihi ka manawa e loaʻa ai iā ʻoe kahi hōʻailona pololei. Mai hopohopo no kēlā.

He aha nā lāʻau lapaʻau no ka myotonia?

ʻO ka lāʻau no ka myotonia he kikoʻī ia i kou ʻano a me nā hōʻailona. E hana pū ʻoe a me kāu kauka e hoʻomohala i kahi hoʻolālā lapaʻau i kūpono i kāu mau pono. Mai kānalua e nīnau i kekahi mau nīnau āu e loaʻa ai.

ʻO ka hoʻōla kino ka hapa maʻamau o kāu hoʻolālā lapaʻau. Hiki i kahi mea hoʻōla kino ke kōkua iā ʻoe e pale i nā mea hoʻonāukiuki i ʻike ʻia a i ʻole nā ​​mea hiki ke hoʻoulu a hoʻomohala i kahi hoʻolālā hoʻoikaika kino e kōkua iā ʻoe e noho ikaika e like me ka hiki. Hiki i nā mea hoʻōla hana ke kōkua iā ʻoe e ʻimi i nā ala hou e hana ai i nā hana o kēlā me kēia lā. Hiki iā lākou ke paipai i nā mea kōkua adaptive a i ʻole mobility.

Lapaʻau Dystrophic Myotonia

Hoʻōla ʻia ka Dystrophic Myotonia ma ke ʻano o nā hōʻailona. Pono ʻoe e hana i nā nānā maʻamau e nānā i ke olakino o nā ʻōpū i hoʻopilikia ʻia e kou ʻano Dystrophic Myotonia.

ʻO ka lāʻau lapaʻau a nā kauka e kuhikuhi nui ai, ʻo ia ka mexiletine . He lāʻau lapaʻau antiarrhythmic maoli nō ia, akā kōkua nō hoʻi ia i ka ʻūlū ʻana o nā ʻiʻo a me ka ʻoʻoleʻa. Hiki i ka Mexiletine ke kōkua pū me kekahi ʻano myotonia non-dystrophic.

Lapaʻau Myotonia ʻaʻole dystrophic

Ma waho aʻe o nā lāʻau lapaʻau, ʻo ka mālama ʻana no ka myotonia non-dystrophic e komo pū me ka pale ʻana i kekahi mau mea hoʻonāukiuki. ʻO kēia mau mea:

• Ke pale nei i ka hōʻike ʻana i ke anu.
• Ke kaupalena ʻana i ka hoʻoikaika kino, hoʻoikaika kino.

Ka Lapaʻau ʻana no ka Paralysis Kau

ʻO ka mālama ʻana no ka maʻi lolo manawa pinepine e pili ana i ka kaohi ʻana i nā pae potassium a me ka pale ʻana i nā mea hoʻonāukiuki. Hiki i kāu kauka ke ʻōlelo aku iā ʻoe e pale i kēia mau mea:

• Ka hoʻomaha ʻana no ka manawa lōʻihi ma hope o ka hoʻoikaika kino ʻana.
• Ka ʻai ʻana i nā meaʻai kiʻekiʻe i nā carbohydrates.
• Ka ʻai ʻana i nā manawa kūpono ʻole.
• Hiamoe kūpono ʻole.
• Ke hana nei i ka pō.

Inā loaʻa iā ʻoe ka hypokalemic periodic paralysis , hiki i kāu kauka ke ʻōlelo iā ʻoe e ʻai i nā meaʻai waiwai i ka potassium, e like me ka maiʻa, nā pīni, nā hua maloʻo, nā mango, a me ka papaya.

Inā loaʻa iā ʻoe ka hyperkalemic periodic paralysis , pono paha ʻoe e pale i nā meaʻai kiʻekiʻe i ka potassium .

Inā ʻaʻole lawa kēia mau hana e kāohi i kāu mau hōʻailona, ​​​​hiki i kāu kauka ke kuhikuhi i kekahi o nā lāʻau lapaʻau i kapa ʻia ʻo dichlorphenamide a i ʻole acetazolamide .

Hiki ke pale ʻia ka ulu ʻana o ka myotonia?

Hoʻokumu ʻia ka myotonia e nā loli genetic, no laila ʻaʻohe mea hiki iā ʻoe ke hana e pale aku ai. Inā loaʻa i kekahi o kou ʻohana ka myotonia, a inā loaʻa iā ʻoe ke ʻano, a ke hoʻolālā nei ʻoe e loaʻa nā keiki, e noʻonoʻo e ʻike i kahi kākāʻōlelo genetic . Hiki iā lākou ke wehewehe i kou pilikia o ka hoʻoilina ʻana i ke ʻano a me ka hoʻoili ʻana i kāu hanauna e hiki mai ana.

He aha ka wānana no kekahi me ka myotonia? (Prognosis)

Inā loaʻa iā ʻoe ka myotonia, hilinaʻi kou nānā ʻana i kekahi mau kumu. ʻO kēia mau mea:

• ʻO ke ʻano o ka myotonia āu.
• Ke koʻikoʻi o kou mau hōʻailona.
• Pehea e pane ai kou kino i ka lāʻau lapaʻau.
• Kou olakino holoʻokoʻa a me kou mau makahiki.

E hiki i kāu kauka ke hāʻawi iā ʻoe i kahi manaʻo maikaʻi no ka mea e hiki mai ana no kou kūlana kikoʻī, akā ma ke ʻano laulā he mea like ia me kēia:

• Loaʻa i nā myotonias non-dystrophic kahi prognosis maikaʻi, akā hiki ke loli kēia ma muli o ke koʻikoʻi o kāu mau hōʻailona.
• ʻO ka wānana no nā myotonia dystrophic e pili ana i ke koʻikoʻi o ka hopena o nā ʻōnaehana kino ʻē aʻe. Hiki i nā ʻano dystrophy myotonic 1 a me 2 ke hoʻopōkole i ka manaʻolana ola.
• Hiki ke ʻoi aku ka ʻino o ka maʻi lolo i kēlā me kēia manawa me ka ʻelemakule, a hiki ke alakaʻi i nā pilikia ʻiʻo koʻikoʻi a mau loa (myopathy) .

Āhea wau e ʻike ai i ke kauka?

He maʻi mau/lōʻihi ka Myotonia. No laila, pono ʻoe e ʻike i ke kauka i kou ola a pau e nānā i kāu mau hōʻailona a ʻike i ka maikaʻi o kāu lāʻau lapaʻau.

ʻO ka mea nui, hiki i nā kūlana e pili ana me ka myotonia ke hoʻopilikia i kāu pane ʻana i ka anesthesia . Inā ua hoʻonohonoho ʻia ʻoe e hana i kekahi ʻoki kino, pono ʻoe e haʻi i kāu kauka e pili ana i ia mea. Pono hoʻi ʻoe e haʻi i ka anesthesiologist nāna e mālama iā ʻoe i ka wā o ke ʻoki kino.

He mea maʻamau ke manaʻo haʻalulu a mehameha ke ʻike ʻia ʻoe he maʻi laha ʻole. Hoʻopilikia ka Myotonia i kēlā me kēia kanaka i nā ʻano like ʻole, no laila he nui paha kāu mau nīnau. E noho pū kāu hui lapaʻau me ʻoe ma kāu huakaʻi hōʻoia a me ka mālama ʻana. E kiʻi i ke kākoʻo mai iā lākou, a mai kāu poʻe aloha.

Nā mea nui a mākou e hoʻomanaʻo ai (Leka Lawe-Home)

ʻO ka myotonia kahi kūlana i hoʻomaha ʻole ai nā ʻiʻo ma hope o ko lākou ʻūlū ʻia ʻana. Hoʻokumu ʻia kēia e nā kumu hoʻoilina.

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- ʻElua ʻano nui o kēia: dystrophic (hōʻino i ke ʻano o nā ʻiʻo) a me non-dystrophic (ʻaʻohe hōʻino i ke ʻano).

- Hiki i nā hōʻailona ke komo pū me ka ʻoʻoleʻa o nā ʻiʻo, ka nāwaliwali, ka ʻeha, a me ka luhi. Loaʻa i kekahi mau ʻano nā hōʻailona kikoʻī.

- Hoʻohana ʻia nā hoʻokolohua koko, EMG, a me nā hoʻokolohua genetic e ʻike ai i ka maʻi.

- ʻOkoʻa ka lāʻau lapaʻau ma muli o ke ʻano o ka maʻi a me nā hōʻailona. Hoʻokomo pū kēia i ka hoʻōla kino, ka lāʻau lapaʻau, a me ka pale ʻana i kekahi mau mea (nā mea hoʻonāukiuki).

- ʻAʻole hiki ke pale ʻia kēia, akā hiki iā ʻoe ke loaʻa ke kōkua mai ke aʻoaʻo genetic.

- Inā loaʻa iā ʻoe kēia mau hōʻailona, ​​e ʻike pono i ke kauka. He mea nui loa ka hōʻoia kūpono a me ka hoʻolālā lapaʻau nou.

ʻO Myotonia, Myotonia, ʻOʻoleʻa o nā ʻiʻo, nā maʻi hoʻoilina, Dystrophic Myotonia, Dystrophic Myotonia, Non-dystrophic Myotonia, nā maʻi ʻiʻo